The Risk of Tay Sachs Disease

Tay-Sachs is a genetic disease inherited by children only if both parents are carriers of the gene. The disease interferes with the breakdown of fatty acids in the brain. As a result the brain cells stop working, the child with Tay Sachs become blind, deaf and unable to swallow. Because of the nervous system problems the child usually dies before the age of five.

The disease is often considered to be exclusively a genetic disease of Jews, but not only Jews are affected. As a result many couples are unaware they are at risk for the potential of Tay-Sachs disease in their children.

The Tay-Sachs disease is especially common in certain areas of the world and in certain ethnic groups. According to Jayne Gershkowitz Executive Director of the National Tay Sachs and Allied Diseases Association, Tay Sachs is found in a numerous ethnic groups. In Irish Americans the incidence is 1 in 150 to 1:190. In groups such as Jews of Eastern European decent, French Canadians and Louisiana Cajuns the incidence is 1 in 27.

It is suggested individuals with the possibility of being carriers of Tay-Sachs undergo genetic counseling before pregnancy. Some medical experts recommend genetic counseling before marriage so both partners are aware of the possibilities before marriage.

The cost of the Tays-Sach blood test screening is approximately $3,000. The test involves DNA testing. At this time, according to the National Tay-Sachs website, the DNA testing is 95% accurate for those of Ashkenazi Jewish background (Eastern European) and 60% accurate for non-Jewish individuals. Therefore, some people who are carriers will not be identified by DNA analysis alone.

If both parents are carriers of the defective gene there is a 1 in 4 chance of having a child with Tay Sachs disease. Because of the outcome of the disease people who are carriers are generally counseled not to marry or have children together.

The disease was featured in the movie, Two Lovers with Joaquin Phoenix and Gwneth Paltrow. The Two Lovers story revolves around Joaquin Phoenix who becomes suicidal after breaking up with his finance after finding out they were both carriers of Tay Sachs. The movie explores his life after the breakup and his attempt to find a new relationship.

Although a cure for the disease is not available today, research studies are being done to find a cure if possible. It is suggested other family members also be tested for the Tays-Sach gene as it can help in the research so a cure can possibly be found. The National Tay-Sachs website offers information and resources for those couples who want to learn more about testing, support, and research for Tay-Sachs disease.